Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis

Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of glycoconjugates expressed by neurons. Deficiencies in their catabolic pathways give rise to a large and well-studied group of inherited disorders, the...

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Detalles Bibliográficos
Autores principales: Harlalka, Gaurav V., Lehman, Anna, Chioza, Barry, Baple, Emma L., Maroofian, Reza, Cross, Harold, Sreekantan-Nair, Ajith, Priestman, David A., Al-Turki, Saeed, McEntagart, Meriel E., Proukakis, Christos, Royle, Louise, Kozak, Radoslaw P., Bastaki, Laila, Patton, Michael, Wagner, Karin, Coblentz, Roselyn, Price, Joy, Mezei, Michelle, Schlade-Bartusiak, Kamilla, Platt, Frances M., Hurles, Matthew E., Crosby, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3859217/
https://www.ncbi.nlm.nih.gov/pubmed/24103911
http://dx.doi.org/10.1093/brain/awt270

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